Variant report

Variant	rs35760247
Chromosome Location	chr8:11141415-11141416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11141315-11141511	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11141398-11142743	PBDE	blood:	n/a	n/a
3	GABPA	chr8:11141098-11142824	MCF-7	breast:	n/a	n/a
4	FOXM1	chr8:11141367-11142227	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11141198-11142914	GM12878	blood:	n/a	n/a
6	ELF1	chr8:11141271-11142768	GM12878	blood:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
7	GABPA	chr8:11141390-11142654	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:11141360-11142798	GM18951	blood:	n/a	n/a
9	ELF1	chr8:11141320-11142811	HCT-116	colon:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
10	TCF12	chr8:11141298-11142785	A549	lung:	n/a	n/a
11	GABPA	chr8:11141324-11142925	A549	lung:	n/a	n/a
12	GABPA	chr8:11141353-11142871	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr8:11141382-11142850	HepG2	liver:	n/a	n/a
14	PML	chr8:11141334-11142907	GM12878	blood:	n/a	chr8:11141471-11141479
15	MXI1	chr8:11141037-11143524	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr8:11141288-11142902	IMR90	lung:	n/a	n/a
17	POLR2A	chr8:11141401-11142744	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr8:11141289-11142983	GM12891	blood:	n/a	n/a
19	REST	chr8:11141356-11143053	H1-neurons	neurons:	n/a	chr8:11141394-11141407
20	POLR2A	chr8:11141337-11141443	MCF-7	breast:	n/a	n/a
21	MAX	chr8:11141343-11142516	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:11141297-11142692	GM18526	blood:	n/a	n/a
23	HCFC1	chr8:11141250-11142950	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:11141275-11142848	GM19193	blood:	n/a	n/a
25	MAX	chr8:11141284-11142775	HepG2	liver:	n/a	n/a
26	GABPA	chr8:11141253-11142650	HL-60	blood:	n/a	n/a
27	MAX	chr8:11141340-11142748	HepG2	liver:	n/a	n/a
28	POLR2A	chr8:11141236-11142870	GM12878	blood:	n/a	n/a
29	MAX	chr8:11141394-11142874	A549	lung:	n/a	n/a
30	SETDB1	chr8:11141308-11142631	K562	blood:	n/a	n/a
31	GABPA	chr8:11141320-11142542	A549	lung:	n/a	n/a
32	POLR2A	chr8:11141243-11142818	H1-hESC	embryonic stem cell:	n/a	n/a
33	MTA3	chr8:11141253-11142880	GM12878	blood:	n/a	n/a
34	GABPA	chr8:11141331-11142775	K562	blood:	n/a	n/a
35	POLR2A	chr8:11141255-11142866	GM19099	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11141415-11141465	SAEC	small airway:	n/a
2	chr8:11141415-11141465	Hela-S3	cervix:	n/a
3	chr8:11141365-11141415	HRPEpiC	eye:	n/a
4	chr8:11141365-11141415	SKMC	muscle:	n/a
5	chr8:11141415-11141465	Hepatocyte	liver:	n/a
6	chr8:11141415-11141465	HEK293	kidney:	embryo
7	chr8:11141415-11141465	SK-N-SH_RA	brain:	n/a
8	chr8:11141415-11141465	BE2_C	brain:	n/a
9	chr8:11141365-11141415	ECC-1	luminal epithelium:	n/a
10	chr8:11141415-11141465	SK-N-SH	brain:	n/a
11	chr8:11141365-11141415	GM19239	blood:	n/a
12	chr8:11141365-11141415	SAEC	small airway:	n/a
13	chr8:11141415-11141465	HAEpiC	amniotic membrane:	n/a
14	chr8:11141415-11141465	GM12891	blood:	n/a
15	chr8:11141415-11141465	AG09319	gingival:	n/a
16	chr8:11141415-11141465	GM12892	blood:	n/a
17	chr8:11141365-11141415	HL-60	blood:	n/a
18	chr8:11141415-11141465	HCM	heart:	n/a
19	chr8:11141365-11141415	BE2_C	brain:	n/a
20	chr8:11141365-11141415	HAEpiC	amniotic membrane:	n/a
21	chr8:11141415-11141465	GM12878	blood:	n/a
22	chr8:11141365-11141415	AG09309	skin:	n/a
23	chr8:11141365-11141415	IMR90	lung:	fetal
24	chr8:11141365-11141415	AG10803	skin:	n/a
25	chr8:11141415-11141465	K562	blood:	n/a
26	chr8:11141365-11141415	PFSK-1	brain:	n/a
27	chr8:11141365-11141415	U87	brain:	n/a
28	chr8:11141415-11141465	AG04449	skin:	fetal
29	chr8:11141415-11141465	GM19239	blood:	n/a
30	chr8:11141365-11141415	RPTEC	kidney:	n/a
31	chr8:11141365-11141415	HCM	heart:	n/a
32	chr8:11141415-11141465	HRE	kidney:	n/a
33	chr8:11141415-11141465	PANC-1	pancreas:	n/a
34	chr8:11141365-11141415	BJ	skin:	n/a
35	chr8:11141415-11141465	HL-60	blood:	n/a
36	chr8:11141415-11141465	H1-hESC	embryonic stem cell:	embryo
37	chr8:11141415-11141465	AoSMC	blood vessel:	n/a
38	chr8:11141415-11141465	U87	brain:	n/a
39	chr8:11141365-11141415	PANC-1	pancreas:	n/a
40	chr8:11141415-11141465	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:11141415-11141465	T-47D	breast:	n/a
42	chr8:11141415-11141465	AG04450	lung:	fetal
43	chr8:11141415-11141465	HIPEpiC	eye:	n/a
44	chr8:11141365-11141415	SK-N-MC	brain:	n/a
45	chr8:11141365-11141415	HRCEpiC	kidney:	n/a
46	chr8:11141365-11141415	MCF10A-Er-Src	breast:	n/a
47	chr8:11141365-11141415	PrEC	prostate:	n/a
48	chr8:11141365-11141415	Hepatocyte	liver:	n/a
49	chr8:11141365-11141415	HCF	heart:	n/a
50	chr8:11141365-11141415	T-47D	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249316	TF binding region
MTMR9	TF binding region
ENSG00000249316	CpG island
MTMR9	CpG island
ENSG00000104643	Chromatin interaction
ENSG00000171044	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12681739	1.00[ASN][1000 genomes]
rs28457086	1.00[AMR][1000 genomes]
rs28722994	1.00[AMR][1000 genomes]
rs60724206	1.00[ASN][1000 genomes]
rs6984044	1.00[AMR][1000 genomes]
rs6997765	1.00[AMR][1000 genomes]
rs73665037	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11141000-11141600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr8:11141000-11141600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr8:11141000-11141600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:11141000-11141600	Active TSS	Fetal Brain Male	brain
5	chr8:11141000-11141600	Flanking Active TSS	Fetal Lung	lung
6	chr8:11141000-11141800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr8:11141000-11141800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:11141000-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:11141000-11141800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:11141000-11142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:11141000-11142600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:11141000-11143200	Active TSS	NHLF	lung
14	chr8:11141000-11143400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:11141000-11143400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:11141000-11143400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:11141000-11143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:11141000-11143400	Active TSS	Psoas Muscle	Psoas
19	chr8:11141000-11143600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:11141200-11141600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11141200-11141600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:11141200-11141600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:11141200-11141600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:11141200-11141600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:11141200-11141600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:11141200-11141600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:11141200-11141600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:11141200-11141600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:11141200-11141600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr8:11141200-11141600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:11141200-11141600	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr8:11141200-11141600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr8:11141200-11141600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr8:11141200-11141600	Flanking Active TSS	Fetal Heart	heart
35	chr8:11141200-11141600	Flanking Active TSS	Left Ventricle	heart
36	chr8:11141200-11141600	Flanking Active TSS	Right Ventricle	heart
37	chr8:11141200-11141600	Flanking Active TSS	GM12878-XiMat	blood
38	chr8:11141200-11141600	Flanking Active TSS	HepG2	liver
39	chr8:11141200-11141600	Flanking Active TSS	NHEK	skin
40	chr8:11141200-11141800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:11141200-11141800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:11141200-11141800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:11141200-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:11141200-11141800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:11141200-11141800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr8:11141200-11141800	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr8:11141200-11141800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr8:11141200-11141800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr8:11141200-11141800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:11141200-11141800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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